Article
A novel splice-site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy.
Clinical and experimental dermatology - 1 Jan 2009
Jelani M, Salman Chishti M, Ahmad W
Abstract excerpt
BACKGROUND: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by sparse hair on the scalp and early blindness. Mutations in the CDH3 gene have been reported to underlie HJMD. AIM: To identify a gene responsible for HJMD in a large, four-generation Pakistani family. METHODS: Genotyping of 13 members of the family, including 6 affected and 7 unaffected...
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